Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Endocardial fibroelastosis of left atrium (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Local exogenous pigmentation of oral soft tissue (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Charcot-Marie-Tooth disease, type II (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative mitral valve prolapse |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Verruciform xanthoma of oral mucous membrane (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Xanthoma of lung (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Congenital pulmonary alveolar proteinosis (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Autoimmune pulmonary alveolar proteinosis (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Congenital nephrotic syndrome with focal glomerulosclerosis |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Hemiatrophy of lower limb |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Mucous patch of oral mucosa (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Characterized by spillage of melanin from the basal keratinocytes into the underlying connective tissue of the lips. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A process that reduces the level of inorganic precipitate within the organic matrix in the enamel and dentin of the tooth. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
A form of porto-sinusoidal vascular disease characterized histologically by varying degrees of phlebosclerosis, primarily involving the small and medium branches of the portal vein with heterogeneous distribution, in the absence of cirrhosis. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Benign acantholytic dermatosis of vulva (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Circumscribed atrophy of brain |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Cerebral atrophy |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Xanthelasma |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Gastric xanthoma (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Angina co-occurrent and due to arteriosclerosis of coronary artery bypass graft (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A rare genetic disease characterized by infantile onset of recurrent skin ulcerations, arthralgias, fever, peri-articular fistulous osteolysis, oligodontia, nail dystrophy, and keratitis. The disease takes a self-limiting course in childhood but results in severe cicatrization, chronic arthroses, pseudoacromegalic appearance of hands and feet, secondary scoliosis, and visual impairment. There have been no further descriptions in the literature since 1983. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Atrophy of soft tissue of orbit (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Xanthoma planum of eyelid |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Atherosclerosis of non-autologous coronary artery bypass graft (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Collapse of vertebra |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Wandering rash of mouth |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Genetic lipodystrophy (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Pneumonopathy due to inhalation of dust (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Segmental arterial mediolysis (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Atherosclerosis of autologous coronary artery bypass graft |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Superficial siderosis of central nervous system |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A rare non-hereditary degenerative ataxia disease characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Familial amyloid polyneuropathy |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Morton neuroma of bilateral feet (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Tracheobronchomalacia in neonate (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Wear of cartilage of joint caused by hemiarthroplasty (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative disorder of ear (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Wear of articular bearing surface of joint prosthesis of hip (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Wear of articular bearing surface of joint prosthesis of knee (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Acquired hypoganglionosis of large intestine (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Circumscribed hypermelanosis (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Haemosiderin pigmentation of lower limb due to varicose veins of lower limb |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Xanthoma of bone (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Hereditary acantholytic dermatosis |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Acquired acantholytic dermatosis (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Mandibuloacral dysostosis |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Fatty pancreas (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Juvenile osteochondrosis of left tarsus |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Juvenile osteochondrosis of right tarsus (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
IgA nephropathy |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Rhinitis sicca |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
A rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Chrysoderma |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Juvenile osteochondritis of the arm |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Pachyonychia congenita syndrome |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Injury to respiratory system due to inhaled substance (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Degeneration of spine |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Bronchomalacia |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative disorder of muscle |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Diabetic dermopathy |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Pemphigus |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Familial benign pemphigus |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative progressive high myopia |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Chronic plaque-like oral candidosis (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Deposition of excess fat on visceral pericardium |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Coronary arteriosclerosis in artery of transplanted heart |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
hypovolémie par perte extra-rénale |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
hypovolémie par perte gastro-intestinale |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Lipoatrophy |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Neuralgic amyotrophy of left brachial plexus (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Neuralgic amyotrophy of right brachial plexus (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Lipodystrophy |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Senile dermatosis (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Perforating dermatosis (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Colloid milium (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Erosive pustular dermatosis (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Proteinosis |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Structure with calcium deposition. |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Amnion nodosum |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Hydropic degeneration of chorionic villi |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Severe systemic illness-induced intestinal villous atrophy |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Polypoid degeneration of vocal cord |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative myopia of left eye (disorder) |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative myopia of right eye |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Injury to respiratory system due to inhalation of particulate matter (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Carcinoid heart disease |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative tear of triangular fibrocartilage complex of wrist (disorder) |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Placenta fenestrata |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Morton's metatarsalgia |
Is a |
False |
Degenerative disorder |
Inferred relationship |
Some |
|
Degeneration of uterine fibroid |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Degenerative sequelae of disorders |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|
Arthritis mutilans |
Is a |
True |
Degenerative disorder |
Inferred relationship |
Some |
|